Canonical Allele Identifier: CA96782284

Gene: SGCB

Linked Data

• ClinVar Variation Id: 500527
• ClinVar RCV Id: RCV000595498 ; RCV002065167
• dbSNP Id: rs989155710
• gnomAD v2: 4-52895091-C-A
• gnomAD v3: 4-52028925-C-A
• gnomAD v4: 4-52028925-C-A
• MyVariant Identifiers: chr4:g.52895091C>A (hg19) ; chr4:g.52895091_52895092delinsAA (hg19) ; chr4:g.52028925C>A (hg38) ; chr4:g.52028925_52028926delinsAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.52028925C>A , CM000666.2:g.52028925C>A	GRCh38
NC_000004.11:g.52895091C>A , CM000666.1:g.52895091C>A	GRCh37
NC_000004.10:g.52589848C>A	NCBI36
NG_008891.1:g.14395G>T , LRG_204:g.14395G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381431.10:c.430-4G>T MANE Select	ENSP00000370839.6:n.430-4G>T
ENST00000381431.9:c.430-4G>T	ENSP00000370839.5:n.430-4G>T
ENST00000506357.5:c.513-4G>T
ENST00000514133.1:c.507-4G>T	ENSP00000425818.1:n.507-4G>T
NM_000232.4:c.430-4G>T , LRG_204t1:c.430-4G>T	NP_000223.1:n.430-4G>T
XM_006714049.2:c.133-4G>T	XP_006714112.1:n.133-4G>T
XM_011534403.1:c.220-4G>T	XP_011532705.1:n.220-4G>T
XM_011534404.1:c.133-4G>T	XP_011532706.1:n.133-4G>T
NM_000232.5:c.430-4G>T MANE Select	NP_000223.1:n.430-4G>T